Mutagenetix > Incidental Mutation

Incidental Mutation 'R8069:AW146154'

620166

Institutional Source

Beutler Lab

Gene Symbol

AW146154

Ensembl Gene

ENSMUSG00000074166

Gene Name

expressed sequence AW146154

Synonyms

MMRRC Submission

067504-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R8069 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41128298-41149314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41129935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 394 (R394C)

Ref Sequence

ENSEMBL: ENSMUSP00000096109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094532] [ENSMUST00000098509]

AlphaFold

Q3TPQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000094532

Predicted Effect

probably benign
Transcript: ENSMUST00000098509
AA Change: R394C

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000096109
Gene: ENSMUSG00000074166
AA Change: R394C

Domain	Start	End	E-Value	Type
KRAB	4	66	9.86e-14	SMART
ZnF_C2H2	75	97	9.08e1	SMART
ZnF_C2H2	131	153	7.78e-3	SMART
ZnF_C2H2	159	181	4.72e-2	SMART
ZnF_C2H2	187	209	3.63e-3	SMART
ZnF_C2H2	215	237	8.47e-4	SMART
ZnF_C2H2	243	265	4.24e-4	SMART
ZnF_C2H2	271	293	5.81e-2	SMART
ZnF_C2H2	299	321	2.61e-4	SMART
ZnF_C2H2	327	349	2.12e-4	SMART
ZnF_C2H2	355	377	1.6e-4	SMART
ZnF_C2H2	383	405	8.47e-4	SMART
ZnF_C2H2	411	433	6.88e-4	SMART
ZnF_C2H2	439	461	1.6e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	T	A	9: 4,296,823 (GRCm39)	D261V	probably benign	Het
Abca8a	T	C	11: 109,980,876 (GRCm39)	Y54C	probably damaging	Het
Adad2	T	C	8: 120,342,746 (GRCm39)	S431P	probably benign	Het
Adam18	A	G	8: 25,118,246 (GRCm39)	Y557H	possibly damaging	Het
Adam5	C	T	8: 25,303,541 (GRCm39)	E129K	probably damaging	Het
Adgra2	T	C	8: 27,609,251 (GRCm39)	V824A	probably benign	Het
Armc12	A	T	17: 28,751,410 (GRCm39)	K135*	probably null	Het
Aup1	C	T	6: 83,032,910 (GRCm39)	Q215*	probably null	Het
Canx	T	G	11: 50,202,531 (GRCm39)	D25A	possibly damaging	Het
Ccnf	A	G	17: 24,443,989 (GRCm39)	L593P	probably damaging	Het
Cd40	A	T	2: 164,898,695 (GRCm39)	I41F	unknown	Het
Cdh1	C	T	8: 107,384,405 (GRCm39)	A291V	probably benign	Het
Cdhr2	A	T	13: 54,878,883 (GRCm39)	I963F	probably damaging	Het
Cenpe	G	A	3: 134,949,479 (GRCm39)	G88D	probably damaging	Het
Cep295	T	A	9: 15,233,882 (GRCm39)	T2305S	possibly damaging	Het
Cimap1a	A	T	7: 140,430,215 (GRCm39)	T201S	probably benign	Het
Clcn4	T	C	7: 7,299,758 (GRCm39)	R24G	probably damaging	Het
Cnot7	T	C	8: 40,960,514 (GRCm39)	N98S	possibly damaging	Het
Defa3	T	G	8: 21,778,288 (GRCm39)	C91G	probably damaging	Het
Dennd2c	T	C	3: 103,072,446 (GRCm39)	F844L	probably damaging	Het
Dido1	T	C	2: 180,302,705 (GRCm39)	D1733G	probably benign	Het
Dnah7b	G	A	1: 46,263,866 (GRCm39)	W2116*	probably null	Het
Dnaja3	T	C	16: 4,502,131 (GRCm39)	V45A	probably benign	Het
Efcab7	T	A	4: 99,717,615 (GRCm39)	S11T	unknown	Het
Enpp2	T	A	15: 54,710,697 (GRCm39)	K744N	probably damaging	Het
Fam171b	CCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGC	2: 83,643,218 (GRCm39)		probably benign	Het
Fdxacb1	T	G	9: 50,680,135 (GRCm39)	F107C	probably damaging	Het
Fnbp1	A	T	2: 30,926,606 (GRCm39)	Y433N	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gm15446	T	A	5: 110,088,306 (GRCm39)	Y6*	probably null	Het
Gm45140	T	C	6: 87,796,551 (GRCm39)	H66R		Het
Grin3b	G	A	10: 79,812,868 (GRCm39)	R981Q	unknown	Het
Ipp	T	G	4: 116,368,053 (GRCm39)	I95M	probably benign	Het
Iqca1	A	G	1: 89,973,466 (GRCm39)	F769L	probably damaging	Het
Jkamp	C	T	12: 72,136,832 (GRCm39)	L67F	probably damaging	Het
Llgl2	T	A	11: 115,744,112 (GRCm39)	M773K	probably damaging	Het
Man2b1	A	G	8: 85,823,674 (GRCm39)	T973A	probably benign	Het
Mcm2	T	C	6: 88,869,039 (GRCm39)	Y271C	probably damaging	Het
Msl2	T	C	9: 100,978,159 (GRCm39)	S178P	probably benign	Het
Myo7a	G	T	7: 97,732,833 (GRCm39)	S648*	probably null	Het
Neurl1b	G	T	17: 26,651,201 (GRCm39)	V158F	probably damaging	Het
Nkain2	A	G	10: 32,766,034 (GRCm39)	V142A	unknown	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Oma1	A	T	4: 103,176,232 (GRCm39)		probably benign	Het
Or10ag58	A	T	2: 87,265,364 (GRCm39)	N178Y	possibly damaging	Het
Or5aq7	A	G	2: 86,938,411 (GRCm39)	Y107H	probably damaging	Het
Plekhg6	T	C	6: 125,340,009 (GRCm39)	T784A	probably benign	Het
Prtg	T	C	9: 72,752,265 (GRCm39)	I217T	probably benign	Het
Ptx4	T	C	17: 25,341,753 (GRCm39)	F76S	probably damaging	Het
Rap1b	A	C	10: 117,657,514 (GRCm39)	I55S	probably damaging	Het
Sftpd	T	C	14: 40,894,538 (GRCm39)	T294A	probably benign	Het
Spg11	C	T	2: 121,943,637 (GRCm39)	V172I	probably benign	Het
Srms	T	A	2: 180,848,751 (GRCm39)	H363L	probably damaging	Het
Tbc1d13	A	T	2: 30,037,415 (GRCm39)	M266L	probably damaging	Het
Tbc1d2	A	C	4: 46,649,737 (GRCm39)	C100G	possibly damaging	Het
Tdg	A	T	10: 82,474,627 (GRCm39)	Q39L	probably benign	Het
Tiam1	G	A	16: 89,586,146 (GRCm39)	A1547V	probably benign	Het
Trpm1	A	G	7: 63,858,718 (GRCm39)	E380G	possibly damaging	Het
Unc13b	T	G	4: 43,177,597 (GRCm39)	D2808E	unknown	Het
Usp25	A	T	16: 76,865,943 (GRCm39)	D287V	possibly damaging	Het
Zfp648	A	T	1: 154,079,862 (GRCm39)	Q7L	probably benign	Het
Zfp931	T	C	2: 177,709,709 (GRCm39)	R226G	probably benign	Het
Zfyve9	T	A	4: 108,542,215 (GRCm39)	E201D	probably benign	Het

Other mutations in AW146154

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:AW146154	APN	7	41,129,883 (GRCm39)	missense	probably damaging	1.00
R1351:AW146154	UTSW	7	41,129,878 (GRCm39)	missense	probably damaging	1.00
R3763:AW146154	UTSW	7	41,129,794 (GRCm39)	missense	probably damaging	1.00
R4829:AW146154	UTSW	7	41,130,057 (GRCm39)	missense	possibly damaging	0.62
R4835:AW146154	UTSW	7	41,129,892 (GRCm39)	missense	probably damaging	1.00
R5326:AW146154	UTSW	7	41,130,801 (GRCm39)	missense	probably benign	0.00
R5542:AW146154	UTSW	7	41,130,801 (GRCm39)	missense	probably benign	0.00
R5976:AW146154	UTSW	7	41,129,721 (GRCm39)	missense	probably damaging	0.99
R6252:AW146154	UTSW	7	41,130,811 (GRCm39)	missense	probably benign	0.10
R7006:AW146154	UTSW	7	41,130,648 (GRCm39)	missense	possibly damaging	0.50
R7053:AW146154	UTSW	7	41,131,988 (GRCm39)	critical splice donor site	probably null
R7096:AW146154	UTSW	7	41,130,867 (GRCm39)	missense	probably benign	0.32
R7649:AW146154	UTSW	7	41,130,156 (GRCm39)	missense	probably benign	0.13
R8085:AW146154	UTSW	7	41,130,622 (GRCm39)	missense	probably damaging	1.00
R8085:AW146154	UTSW	7	41,130,621 (GRCm39)	missense	possibly damaging	0.61
R8266:AW146154	UTSW	7	41,130,592 (GRCm39)	nonsense	probably null
R8698:AW146154	UTSW	7	41,129,934 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTCAAAACTACTGTGATATGCAAAGGC -3'
(R):5'- TTTACCCGGCACAATAGTCTC -3'

Sequencing Primer
(F):5'- TCTCTGCAGTATGAATTGGCTC -3'
(R):5'- CGGCACAATAGTCTCCAAATAC -3'

Posted On

2020-01-23